A89V (p.Ala89Val) variant of PRPH2 (Peripherin-2)
A89V (p.Ala89Val) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A89V (p.Ala89Val) variant details
- p.Ala89Val
- gnomAD rs1562434177
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.03
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available